PALB2 in Genetic Breast Cancer: Another Piece Falls Into Place

BRCA1 and BRCA2 are the big bads of breast cancer genes. They’re not terribly uncommon, they make it about even odds (or worse) that a cancer will develop, and they often cause a more aggressive form of the disease.

But having normal BRCA genes isn’t a guarantee of normal cancer risk.

PALB2 mutations, we’ve learned recently, change the way BRCA gene products function. And it appears that PALB2 gene mutations raise the risk of breast and ovarian cancer to the same level as a woman with a BRCA mutation – multiplying the risk five or ten times.

Reported in the New England Journal of Medicine this August, PALB2 testing is already becoming part of screening in select circumstances.

Watch for additional updates as they become available.

ADDENDUM 10-6-14 9:35 am

PALB2 testing is routinely offered (as part of a more extended panel) to all patients seen by St. Vincent Hospital’s medical genetics department, according to medical geneticist Theresa Shuck (who is part of the St. Vincent’s team).

But because the more extensive testing takes 12 weeks to complete (compared to 2 weeks for BRCA testing alone) many patients opt out – especially those who need to make surgical decisions sooner.

These more extensive panels also challenge insurance companies. Every possible medical test and procedure is given a specific identifier called a CPT code, which allows insurers to recognize what they’re paying for. Though CPT codes are updated regularly, “there are no CPT codes for these panels yet,” says Shuck. “Most labs are eating the costs of the panels at this point.”